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Common DNA Markers Can Account for More Than Half of the Genetic Influence on Cognitive Abilities
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For nearly a century, twin and adoption studies have yielded substantial estimates of heritability for cognitive abilities, although it has proved difficult for genomewide-association studies to identify the genetic variants that account for this heritability (i.e., the missing-heritability problem). However, a new approach, genomewide complex-trait analysis (GCTA), forgoes the identification of individual variants to estimate the total heritability captured by common DNA markers on genotyping arrays. In the same sample of 3,154 pairs of 12-year-old twins, we directly compared twin-study heritability estimates for cognitive abilities (language, verbal, nonverbal, and general) with GCTA estimates captured by 1.7 million DNA markers. We found that DNA markers tagged by the array accounted for .66 of the estimated heritability, reaffirming that cognitive abilities are heritable. Larger sample sizes alone will be sufficient to identify many of the genetic variants that influence cognitive abilities.
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“findings generally supported by heritability estimates from genome-wide data on unrelated individuals (Davies et al., 2011; Plomin et al., 2013).”
From Large Cross-National Differences in Gene × Socioeconomic Status Interaction on Intelligence (2016) · cites this paper as Plomin et al., 2013
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GCTA: a tool for genome-wide complex trait analysis
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.011 · Cited by 8,279
Common SNPs explain a large proportion of the heritability for human height
Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., Madden, P. A., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2010) · Nature Genetics · doi:10.1038/ng.608 · Cited by 4,446 · cited 2×
“GCTA has been used to estimate heritability as captured by genotyping arrays for height (Yang et al., 2010), weight (Yang, Manolio, et al., 2011), psychiatric and other medical disorders (Lee et al., 2012; Lee et al., 2011; Lubke et al., 2012), and personality (Vinkhuyzen, Pedersen, et al., 2012).”
MethodHowie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · cited 2×
“GWA studies assess associations between a trait and hundreds of thousands of DNA markers (typically singlenucleotide polymorphisms, SNPs) distributed throughout the 3 billion nucleotide bases of the genome genotyped simultaneously using a DNA array the size of a postage stamp (McCarthy et al., 2008).”
MethodVisscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature · doi:10.1038/nature09410 · Cited by 1,945 · cited 1×
“This would mean that, with sample sizes in the hundreds of thousands, as in research on height (Lango Allen et al., 2010) and weight (Speliotes et al., 2010), many replicable associations between DNA and cognitive abilities could be found.”
BackgroundPersonal genomes: The case of the missing heritability
Maher, B. (2008) · Nature · doi:10.1038/456018a · Cited by 1,737 · cited 1×
“However, there is a great gap between genes identified so far in GWA studies and heritability estimates— the missing-heritability problem (Maher, 2008).”
BackgroundRare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278 · cited 2×
“Accounting for the rest of the missing heritability is likely to require other DNA variants not well tagged by the common SNPs on current DNA arrays (Gibson, 2012).”
BackgroundUncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136 · cited 1×
“One of many possible reasons for the missing-heritability problem is that the common SNPs (i.e., SNPs for which the frequency of the less frequent allele is greater than .01) incorporated in commercially available DNA arrays miss the contribution of rare DNA variants (Cirulli & Goldstein, 2010).”
BackgroundEstimating Missing Heritability for Disease from Genome-wide Association Studies
Lee, S. H., Wray, N. R., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.02.002 · Cited by 1,064 · cited 2×
“GCTA has been used to estimate heritability as captured by genotyping arrays for height (Yang et al., 2010), weight (Yang, Manolio, et al., 2011), psychiatric and other medical disorders (Lee et al., 2012; Lee et al., 2011; Lubke et al., 2012), and personality (Vinkhuyzen, Pedersen, et al., 2012).”
BackgroundMethodThe neuroscience of human intelligence differences
Deary, I. J., Penke, L., & Johnson, W. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2793 · Cited by 1,038
Intelligence: New findings and theoretical developments
Nisbett, R. E., Aronson, J., Blair, C., Dickens, W., Flynn, J., Halpern, D. F., & Turkheimer, E. (2012) · American Psychologist · doi:10.1037/a0026699 · Cited by 1,031 · cited 1×
“Although the consensus concerning heritability of cognitive abilities is not unanimous (Nisbett et al., 2012), twin and adoption studies have moved beyond asking whether and how much genes influence cognitive abilities to asking how they do so (Haworth & Plomin, 2010).”
BackgroundGenome partitioning of genetic variation for complex traits using common SNPs
Yang, J., Manolio, T. A., Pasquale, L. R., Boerwinkle, E., Caporaso, N., Cunningham, J. M., de Andrade, M., Feenstra, B., Feingold, E., Hayes, M. G., et al. (2011) · Nature Genetics · doi:10.1038/ng.823 · Cited by 890
The heritability of general cognitive ability increases linearly from childhood to young adulthood
Haworth, C. M. A., Wright, M. J., Luciano, M., Martin, N. G., de Geus, E. J. C., van Beijsterveldt, C. E. M., Bartels, M., Posthuma, D., Boomsma, D. I., Davis, O. S. P., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.55 · Cited by 618 · cited 2×
“For example, investigating how genetic influence on cognitive abilities develops has revealed a steady increase in the heritability of general cognitive ability from childhood through adulthood (Haworth et al., 2010).”
BackgroundSelf-citationGenome-wide association studies establish that human intelligence is highly heritable and polygenic
Davies, G., Tenesa, A., Payton, A., Yang, J., Harris, S. E., Liewald, D., Ke, X., Le Hellard, S., Christoforou, A., Luciano, M., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.85 · Cited by 608 · cited 6×
“…did not differ significantly among the cognitive abilities because of their large confidence intervals (see Table 1), previously reported GCTA estimates for general cognitive ability were also substantial for children (Deary et al., 2012) and adults (Chabris et al., 2012; Davies et al., 2011).”
BackgroundMethodInfluentialEstimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ), Lee, S. H., The International Schizophrenia Consortium (ISC), The Molecular Genetics of Schizophrenia Collaboration (MGS), DeCandia, T. R., Ripke, S., Yang, J., Sullivan, P. F., Goddard, M. E., Keller, M. C., et al. (2012) · Nature Genetics · doi:10.1038/ng.1108 · Cited by 579 · cited 1×
“GCTA has been used to estimate heritability as captured by genotyping arrays for height (Yang et al., 2010), weight (Yang, Manolio, et al., 2011), psychiatric and other medical disorders (Lee et al., 2012; Lee et al., 2011; Lubke et al., 2012), and personality (Vinkhuyzen, Pedersen, et al., 2012).”
MethodBarrett, J. C., Anderson, C. A., Deloukas, P., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., et al. (2009) · Nature Genetics · doi:10.1038/ng.483 · Cited by 549
Self-citationGeneralist Genes and Learning Disabilities.
Plomin, R., & Kovas, Y. (2005) · Psychological Bulletin · doi:10.1037/0033-2909.131.4.592 · Cited by 534 · cited 1×
“Multivariate GCTA models can also be used to test other hypotheses that have emerged from family-based genetic research on cognitive abilities, such as the generalist-genes hypothesis, which posits high genetic correlations among diverse cognitive abilities and disabilities (Plomin & Kovas, 2005).”
MethodSelf-citationGenetic foundations of human intelligence
Deary, I. J., Johnson, W., & Houlihan, L. M. (2009) · Human Genetics · doi:10.1007/s00439-009-0655-4 · Cited by 373
Oliver, B. R., & Plomin, R. J. (2007) · Twin Research and Human Genetics · doi:10.1375/twin.10.1.96 · Cited by 302 · cited 1×
“The sample was from the Twins Early Development Study (TEDS; Oliver & Plomin, 2007), a representative sample of families in the United Kingdom (Kovas, Haworth, Dale, & Plomin, 2007).”
BackgroundSelf-citationMost Reported Genetic Associations With General Intelligence Are Probably False Positives
Chabris, C. F., Hebert, B. M., Benjamin, D. J., Beauchamp, J. P., Cesarini, D. A., van der Loos, M., Johannesson, M., Magnusson, P. K. E., Lichtenstein, P., Atwood, C., et al. (2012) · Psychological Science · doi:10.1177/0956797611435528 · Cited by 280 · cited 4×
“The GCTA estimate for general cognitive ability was .47 in a meta-analysis across three studies involving nearly 10,000 adults (Chabris et al., 2012) and .48 in a study of nearly 2 thousand 11-year-old children (Deary et al., 2012).”
BackgroundMethodInfluentialGenetic contributions to stability and change in intelligence from childhood to old age
Deary, I. J., Yang, J., Davies, G., Harris, S. E., Tenesa, A., Liewald, D. C. M., Luciano, M., Lopez, L. M., Gow, A. J., Corley, J., et al. (2012) · Nature · doi:10.1038/nature10781 · Cited by 255 · cited 6×
“The GCTA estimate for general cognitive ability was .47 in a meta-analysis across three studies involving nearly 10,000 adults (Chabris et al., 2012) and .48 in a study of nearly 2 thousand 11-year-old children (Deary et al., 2012).”
BackgroundMethodInfluentialVinkhuyzen, A. A. E., Pedersen, N. L., Yang, J., Lee, S., Magnusson, P. K. E., Iacono, W. G., McGue, M. K., Madden, P. A. F., Heath, A. C., Luciano, M., et al. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.27 · Cited by 174
Estimating the genetic variance of Major Depressive Disorder (MDD) due to all SNPs
Lubke, G., Hottenga, J., Walters, R., Laurin, C., de Geus, E. D., Willemsen, G., Smit, J., Middeldorp, C., Penninx, B., Vink, J., et al. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2012.03.011 · Cited by 145 · cited 2×
“GCTA has been used to estimate heritability as captured by genotyping arrays for height (Yang et al., 2010), weight (Yang, Manolio, et al., 2011), psychiatric and other medical disorders (Lee et al., 2012; Lee et al., 2011; Lubke et al., 2012), and personality (Vinkhuyzen, Pedersen, et al., 2012).”
BackgroundMethodInternet Cognitive Testing of Large Samples Needed in Genetic Research
Haworth, C., Harlaar, N., Kovas, Y., Davis, O., Oliver, B. R., Hayiou-Thomas, M., Frances, J., Busfield, P., McMillan, A., Dale, P. S., et al. (2007) · Twin Research and Human Genetics · doi:10.1375/twin.10.4.554 · Cited by 139 · cited 2×
“(2009b): Composite scores were created for language ability (three tests), verbal cognitive ability (two tests), nonverbal cognitive ability (two tests), and general cognitive ability (verbal + nonverbal), all of which were assessed via Webbased testing (Haworth et al., 2007).”
BackgroundSelf-citationChild Development and Molecular Genetics: 14 Years Later
Plomin, R. J. (2012) · Child Development · doi:10.1111/j.1467-8624.2012.01757.x · Cited by 125 · cited 5×
“…results of GWA studies is to show that there are no genes of large effect size in the population, which means that the heritability of complex traits is probably due to many genes of small effect size, and this means that associations will be difficult to detect and replicate (Plomin, 2012).”
BackgroundInfluentialSelf-citationThe Impact of Genetic Research on our Understanding of Normal Cognitive Ageing: 1995 to 2009
Payton, A. (2009) · Neuropsychology Review · doi:10.1007/s11065-009-9116-z · Cited by 95 · cited 1×
“The first attempts to find genes associated with cognitive abilities focused on genes involved in brain function (Payton, 2009).”
BackgroundDramatic Increase in Heritability of Cognitive Development from Early to Middle Childhood
Davis, O. S. P., Haworth, C. M. A., & Plomin, R. J. (2009) · Psychological Science · doi:10.1111/j.1467-9280.2009.02433.x · Cited by 94 · cited 3×
“Cognitive data were available for 5,434 pairs at age 12 (Davis et al., 2009b); however, the twin analyses presented here, although very similar to those reported by Davis et al. (2009b), were based on only the 3,154 pairs of twins that included a member for whom GWA genotyping data were available.”
MethodResultSelf-citationA Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects
Davis, O. S. P., Butcher, L. M., Docherty, S. J., Meaburn, E. L., Curtis, C. J. C., Simpson, M. A., Schalkwyk, L. C., & Plomin, R. J. (2010) · Behavior Genetics · doi:10.1007/s10519-010-9350-4 · Cited by 85 · cited 2×
“For example, the first GWA studies of general cognitive ability (Davies et al., 2011; Davis et al., 2010) were powered to detect associations that account for as little as .01 of the variance, but they came up empty-handed because the associations with the largest effect accounted for less than…”
BackgroundSelf-citationLearning abilities and disabilities: Generalist genes in early adolescence
Davis, O., Haworth, C., & Plomin, R. (2009) · Cognitive Neuropsychiatry · doi:10.1080/13546800902797106 · Cited by 76 · cited 3×
“Cognitive data were available for 5,434 pairs at age 12 (Davis et al., 2009b); however, the twin analyses presented here, although very similar to those reported by Davis et al. (2009b), were based on only the 3,154 pairs of twins that included a member for whom GWA genotyping data were available.”
MethodResultSelf-citationVinkhuyzen, A. A. E., van der Sluis, S., MAES, H. H. M., & Posthuma, D. (2011) · Behavior Genetics · doi:10.1007/s10519-011-9507-9 · Cited by 71
Heritability of Verbal and Performance Intelligence in a Pediatric Longitudinal Sample
van Soelen, I. L. C., Brouwer, R. M., van Leeuwen, M., Kahn, R. S., Pol, H. E. H., & Boomsma, D. I. (2011) · Twin Research and Human Genetics · doi:10.1375/twin.14.2.119 · Cited by 61 · cited 1×
“…finding is that genes contribute primarily to stability from age to age, although some new genetic effects come into play during the major cognitive transformations from early to middle childhood (Davis, Haworth, & Plomin, 2009a) and from middle childhood to adolescence (van Soelen et al., 2011).”
BackgroundHaworth, C. M. A., & Plomin, R. J. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.01.026 · Cited by 55 · cited 2×
“Although the consensus concerning heritability of cognitive abilities is not unanimous (Nisbett et al., 2012), twin and adoption studies have moved beyond asking whether and how much genes influence cognitive abilities to asking how they do so (Haworth & Plomin, 2010).”
BackgroundMethodSelf-citation
Flagged first, then by citations
6 of the 39 references couldn’t be matched to a known paper.
Research works printed but not linked: 4
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Cited by
Sorted by citations
Genetics and intelligence differences: five special findings
Plomin, R., & Deary, I. J. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.105 · Cited by 702
Self-citationHaworth, C., Davis, O., & Plomin, R. (2012) · Twin Research and Human Genetics · doi:10.1017/thg.2012.91 · Cited by 467
Self-citationThe new genetics of intelligence
Plomin, R. J., & von Stumm, S. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.104 · Cited by 525
Self-citationLarge Cross-National Differences in Gene × Socioeconomic Status Interaction on Intelligence
Tucker-Drob, E. M., & Bates, T. C. (2016) · Psychological Science · doi:10.1177/0956797615612727 · Cited by 359
“…estimates from twin and pedigree studies of intelligence are large (Bouchard & McGue, 1981) and increase with age (Briley & Tucker-Drob, 2013), findings generally supported by heritability estimates from genome-wide data on unrelated individuals (Davies et al., 2011; Plomin et al., 2013).”
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Metadata
- Authors
- Plomin, R., Haworth, C. M. A., Meaburn, E. L., Price, T. S., Wellcome Trust Case Control Consortium 2, & Davis, O. S. P.
- Affiliations
- King's College London (GB)
- University of London (GB)
- Pennsylvania State University (US)
- University of Bristol (GB)
- Corresponding author
- Plomin, Robert
- Venue
- Psychological Science
- Publisher
- SAGE Publications
- Published
- 2013-03-15
- Volume
- 24
- Issue
- 4
- Pages
- 562-568
- ISSN
- 0956-7976 (ISSN-L)
- 1467-9280
- PMC
- PMC3652710
- OpenAlex
- W2098272018
- Cited by
- 138
- References
- 39
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 1 · 2023: 3 · 2022: 5 · 2021: 1 · 2020: 20 · 2019: 6 · 2018: 8 · 2017: 5 · 2016: 15 · 2015: 19 · 2014: 27 · 2013: 19
- FWCI
- 17.69
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Psychological Science (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- BIROn (Birkbeck, University of London) (acceptedVersion)
- Warwick Research Archive Portal (University of Warwick) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, other-oa)
- Bristol Research (University of Bristol) (submittedVersion)
- Explore Bristol Research (submittedVersion)
- Funders
- Wellcome Trust (085475/Z/08/Z, WT088984, 085475/B/08/Z)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD044454, R01HD046167, HD046167, R01HD044454)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Cognitive Abilities and Testing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- cognitive ability, heritability, missing heritability, twin studies, language skills, verbal ability, nonverbal ability, genetic variants, genotyping arrays
- MeSH terms
- Child, Cognition, Genetic Markers, Genotype, Humans, Intelligence, Phenotype, Twins, Dizygotic, Twins, Monozygotic, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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